The Turkish Journal of Pediatrics 2022 , Vol 64 , Num 5
Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency
Havva Yazıcı 1 ,Ebru Canda 1 ,Hüseyin Onay 2 ,Sema Kalkan Uçar 1 ,Sara Habif 3 ,Mahmut Çoker 1
1 Departments of Pediatric Metabolism and Nutrition, Ege University Faculty of Medicine, İzmir, Türkiye
2 Departments of Genetic, Ege University Faculty of Medicine, İzmir, Türkiye
3 Departments of Biochemistry, Ege University Faculty of Medicine, İzmir, Türkiye.
DOI : 10.24953/turkjped.2021.245 Background. Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to lifethreatening metabolic decompensation attacks.

Case. Herein we report a patient diagnosed with MCE deficiency with recurrent acute metabolic ketoacidosis attacks and moderate MMA-uria that persisted in periods without decompensation. At presentation, organic acid profiles were dominated by increased 3 hydroxybutyrate.

Conclusions. 3-Oxothiolase deficiency as a main ketolysis defects disorder was initially suspected. However, the subsequently repeated organic acid analyses demonstrated mild and persistent elevation of methylmalonic acid. This report provides a new phenotype of the clinical and biochemical characterization of MCE deficiency. Keywords : methylmalonyl-CoA epimerase, methylmalonic aciduria, ketosis

Copyright © 2016